103 related articles for article (PubMed ID: 33083009)
1. Identification of a likely pathogenic structural variation in the
Chen M; Zhang M; Qian Y; Yang Y; Sun Y; Liu B; Wang L; Dong M
NPJ Genom Med; 2020; 5():31. PubMed ID: 33083009
[TBL] [Abstract][Full Text] [Related]
2. Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
Barseghyan H; Tang W; Wang RT; Almalvez M; Segura E; Bramble MS; Lipson A; Douine ED; Lee H; Délot EC; Nelson SF; Vilain E
Genome Med; 2017 Oct; 9(1):90. PubMed ID: 29070057
[TBL] [Abstract][Full Text] [Related]
3. Identification of
Powell L; Olinger E; Wedderburn S; Ramakumaran VS; Kini U; Clayton-Smith J; Ramsden SC; Rice SJ; Barroso-Gil M; Wilson I; Cowley L; Johnson S; Harris E; Montgomery T; Bertoli M; ; Boltshauser E; Sayer JA
Brain Commun; 2021; 3(3):fcab163. PubMed ID: 34423300
[TBL] [Abstract][Full Text] [Related]
4. Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome.
Kamate M; Goudar N; Hattiholi V
Brain Dev; 2022 Feb; 44(2):139-141. PubMed ID: 34666927
[TBL] [Abstract][Full Text] [Related]
5. Long-Read Sequencing to Unravel Complex Structural Variants of
Ascari G; Rendtorff ND; De Bruyne M; De Zaeytijd J; Van Lint M; Bauwens M; Van Heetvelde M; Arno G; Jacob J; Creytens D; Van Dorpe J; Van Laethem T; Rosseel T; De Pooter T; De Rijk P; De Coster W; Menten B; Rey AD; Strazisar M; Bertelsen M; Tranebjaerg L; De Baere E
Front Cell Dev Biol; 2021; 9():664317. PubMed ID: 33968938
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia.
Geerts C; Sznajer Y; D'haenens E; Dumitriu D; Nassogne MC
Eur J Med Genet; 2023 Feb; 66(2):104692. PubMed ID: 36592689
[TBL] [Abstract][Full Text] [Related]
7. Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.
Ikeda K; Tamagake A; Kubota T; Izumi R; Yamaguchi T; Yanagi K; Misu T; Aoki Y; Kaname T; Aoki M
Cerebellum; 2024 Feb; ():. PubMed ID: 38421477
[TBL] [Abstract][Full Text] [Related]
8. nanotatoR: a tool for enhanced annotation of genomic structural variants.
Bhattacharya S; Barseghyan H; Délot EC; Vilain E
BMC Genomics; 2021 Jan; 22(1):10. PubMed ID: 33407088
[TBL] [Abstract][Full Text] [Related]
9. Large-Scale Structural Variation Detection in Subterranean Clover Subtypes Using Optical Mapping.
Yuan Y; Milec Z; Bayer PE; Vrána J; Doležel J; Edwards D; Erskine W; Kaur P
Front Plant Sci; 2018; 9():971. PubMed ID: 30065731
[TBL] [Abstract][Full Text] [Related]
10. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J; Wang Q; Zhuo Q; Tian H; Li W; Luo F; Zhang J; Bi D; Peng J; Zhou D; Xin H
Mol Genet Genomic Med; 2018 Sep; 6(5):739-748. PubMed ID: 29974678
[TBL] [Abstract][Full Text] [Related]
11. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
[TBL] [Abstract][Full Text] [Related]
12. Understanding What You Have Found: A Family With a Mutation in the
Elmas M; Gogus B; Solak M
Clin Med Insights Case Rep; 2020; 13():1179547620948666. PubMed ID: 32884387
[TBL] [Abstract][Full Text] [Related]
13. A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.
Han Y; Wang D; Guo J; Xiong Q; Li P; Zhou YA; Zhao B
Mol Genet Genomic Med; 2020 Sep; 8(9):e1366. PubMed ID: 32588564
[TBL] [Abstract][Full Text] [Related]
14. Optical mapping compendium of structural variants across global cattle breeds.
Talenti A; Powell J; Wragg D; Chepkwony M; Fisch A; Ferreira BR; Mercadante MEZ; Santos IM; Ezeasor CK; Obishakin ET; Muhanguzi D; Amanyire W; Silwamba I; Muma JB; Mainda G; Kelly RF; Toye P; Connelley T; Prendergast J
Sci Data; 2022 Oct; 9(1):618. PubMed ID: 36229544
[TBL] [Abstract][Full Text] [Related]
15. Geographic distribution and adaptive significance of genomic structural variants: an anthropological genetics perspective.
Eaaswarkhanth M; Pavlidis P; Gokcumen O
Hum Biol; 2014; 86(4):260-75. PubMed ID: 25959693
[TBL] [Abstract][Full Text] [Related]
16. [Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].
Ding L; Tang S; Li H; Xu X; Luan Z; Zhang Q; Lyu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb; 36(2):136-139. PubMed ID: 30703231
[TBL] [Abstract][Full Text] [Related]
17. [Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia].
Zhang Q; Fan G; Zhang S; Liu Y; Zhang W; Pan Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar; 38(3):251-254. PubMed ID: 33751535
[TBL] [Abstract][Full Text] [Related]
18. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Martin-Rodriguez S; Calvo-Ferrer A; Ortega-Unanue N; Samaniego-Jimenez L; Sanz-Izquierdo MP; Bernardo-Gonzalez I
Ann Hum Genet; 2019 Jul; 83(4):266-273. PubMed ID: 30888062
[TBL] [Abstract][Full Text] [Related]
19. LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.
Fang L; Kao C; Gonzalez MV; Mafra FA; Pellegrino da Silva R; Li M; Wenzel SS; Wimmer K; Hakonarson H; Wang K
Nat Commun; 2019 Dec; 10(1):5585. PubMed ID: 31811119
[TBL] [Abstract][Full Text] [Related]
20. [Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the
Chen B; Zhang S; Tian YA; Liu HF; Liu DH; Xue X; Li RJ; Hu XX; Guan JY; Tang WX; Xu HE
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2020 Sep; 55(9):822-829. PubMed ID: 32911884
[No Abstract] [Full Text] [Related]
[Next] [New Search]
